Home › Trials › NCT04475926

Observing the natural history of specific types of Limb-girdle Muscular Dystrophy

Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), Type 2C (LGMD2C/R5), and Type 2A (LGMD2A/R1)

Observational Sarepta Therapeutics, Inc. · NCT04475926

This study tracks people aged 4 and older with different types of Limb-girdle muscular dystrophy to see how their mobility and breathing change over time.

Quick facts

Study typeObservational
Enrollment241 (estimated)
Ages4 Years and up
SexAll
SponsorSarepta Therapeutics, Inc. Industry-sponsored
Locations26 sites (Phoenix, Arizona and 25 other locations)
Trial IDNCT04475926 on ClinicalTrials.gov

What this trial studies

This observational study will track participants aged 4 years and older who have been genetically diagnosed with various types of Limb-girdle muscular dystrophy (LGMD). Participants will be monitored for mobility and pulmonary function over a period of up to 5 years, depending on their specific LGMD type and baseline assessment scores. Data will also be collected regarding the onset of symptoms to better understand the progression of the disease in routine clinical practice.

Who should consider this trial

Good fit: Ideal candidates include males and females aged 4 years and older with a confirmed diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.

Not a fit: Patients with cognitive impairments or other medical conditions that could affect their ability to comply with study requirements may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide valuable insights into the progression of Limb-girdle muscular dystrophy, potentially leading to improved management strategies for patients.

How similar studies have performed: While this study focuses on the natural history of specific LGMD types, similar observational studies have provided valuable data on muscular dystrophies, suggesting potential for meaningful insights.

Eligibility criteria

Show full inclusion / exclusion criteria 
Inclusion Criteria:

* Male or female participant ≥ 4 years of age who demonstrate symptoms of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1 in the opinion of the investigator (eg, muscle weakness, loss of function, delayed milestones).
* Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.

Exclusion Criteria:

* Demonstrates cognitive delay or impairment that could confound motor development, in the opinion of the Investigator.
* Has a medical condition, in the opinion of the Investigator, that might compromise participants ability to comply with study requirements.
* Is participating in other interventional study(ies) at the time of enrollment in this study.

Where this trial is running

Phoenix, Arizona and 25 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Limb-girdle Muscular DystrophyNorth Star Assessment for DysferlinopathyPerformance of Upper LimbPulmonary function testsAmbulatoryNon-AmbulatoryLimb-girdleLGMD
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.